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Toward understanding the role of genomic repeat elements in neurodegenerative diseases

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Neural Regeneration Research 2025年第3期20卷 646-659页

作者： Zhengyu An Aidi Jiang Jingqi chen Institute of Science and Technology for Brain-Inspired Intelligence Fudan UniversityShanghaiChina MOE Frontiers Center for Brain Science Fudan UniversityShanghaiChina MOE Key Laboratory of Computational Neuroscience and Brain-Inspired Intelligence Fudan UniversityShanghaiChina Zhangjiang Fudan International Innovation Center ShanghaiChina

Neurodegenerative diseases cause great medical and economic burdens for both patients and society;however, the complex molecular mechanisms thereof are not yet well understood. With the development of high-coverage sequencing technology, researchers have started to notice that genomic repeat regions, previously neglected in search of disease culprits, are active contributors to multiple neurodegenerative diseases. In this review, we describe the association between repeat element variants and multiple degenerative diseases through genome-wide association studies and targeted sequencing. We discuss the identification of disease-relevant repeat element variants, further powered by the advancement of long-read sequencing technologies and their related tools, and summarize recent findings in the molecular mechanisms of repeat element variants in brain degeneration, such as those causing transcriptional silencing or RNA-mediated gain of toxic function. Furthermore, we describe how in silico predictions using innovative computational models, such as deep learning language models, could enhance and accelerate our understanding of the functional impact of repeat element variants. Finally, we discuss future directions to advance current findings for a better understanding of neurodegenerative diseases and the clinical applications of genomic repeat elements.

关键词： Alzheimer's disease ataxia deep learning long-read sequencing neurodegeneration neurodegenerative diseases Parkinson's disease repeat element structural variant

Mechanistic insight into the synergy between nickel single atoms and nanoparticles on N-doped carbon for electroreduction of CO2

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Journal of Energy Chemistry 2025年第1期100卷 327-336页

作者： Mingdong Sun Wenwen Guan Cailing chen Chao Wu Xiaoling Liu Biao Meng Tao chen Yu Han Jun Wang Shibo Xi Yu Zhou State Key Laboratory of Materials-Oriented Chemical Engineering College of Chemical Engineering Nanjing Tech University Advanced Membranes and Porous Materials Center Physical Sciences and Engineering Division King Abdullah University of Science and Technology Institute of Sustainability for Chemicals Energy and Environment A*STAR (Agency for Science Technology and Research) College of Materials Science and Engineering Sichuan University

The synergy of single atoms （SAs） and nanoparticles （NPs） has demonstrated great potential in promoting the electrocatalytic carbon dioxide reduction reaction （CO2RR）;however,the rationalization of the SAs/NPs proportion remains one challenge for the catalyst ***,a Ni2+-loaded porous poly（ionic liquids）(PIL) precursor synthesized through the free radical self-polymerization of the ionic liquid monomer,1-allyl-3-vinylimidazolium chloride,was pyrolyzed to prepare the Ni,N co-doped carbon materials,in which the proportion of Ni SAs and NPs could be facilely modulated by controlling the annealing *** catalyst Ni-NC-1000 with a moderate proportion of Ni SAs and NPs exhibited high efficiency in the electrocatalytic conversion of CO2into *** Ni K-edge X-ray absorption near-edge structure （XANES） spectra and theoretical calculations were conducted to gain insight into the synergy of Ni SAs and *** charge transfer from Ni NPs to the surrounding carbon layer and then to the Ni SAs resulted in the electron-enriched Ni SAs active *** the electroreduction of CO2,the coexistence of Ni SAs and NPs strengthened the CO2activation and the affinity towards the key intermediate of*COOH,lowering the free energy for the potential-determining*CO2→*COOH step,and therefore promoted the catalysis efficiency.

关键词： Single atom catalyst Synergy effect Carbon catalyst Electrocatalysis

Ammonia pyrolysis oxidation excited by nanosecond pulsed discharge:Global/fluid models hybrid solution

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Journal of Energy Chemistry 2025年第1期100卷 385-396页

作者： Mingming Zhang Hanyu Wu Qi chen Jiaxin Yang Bonan Liu School of Mechanical Electronic and Control Engineering Beijing Jiaotong University China University of Petroleum

The kinetic characteristics of plasma-assisted oxidative pyrolysis of ammonia are studied by using the global/fluid models hybrid solution ***,the stable products of plasma-assisted oxidative pyrolysis of ammonia are *** results show that the consumption of NH3/O2and the production of N2/H2change linearly with the increase of voltage,which indicates the decoupling of nonequilibrium molecular excitation and oxidative pyrolysis of ammonia at low ***,the detailed reaction kinetics mechanism of ammonia oxidative pyrolysis stimulated by a nanosecond pulse voltage at low pressure and room temperature is *** on the reaction path analysis,the simplified mechanism is *** detailed and simplified mechanism simulation results are compared with experimental data to verify the accuracy of the simplified ***,based on the simplified mechanism,the fluid model of ammonia oxidative pyrolysis stimulated by the nanosecond pulse plasma is established to study the pre-sheath/sheath behavior and the resultant consumption and formation of key *** results show that the generation,development,and propagation of the pre-sheath have a great influence on the formation and consumption of *** consumption of NH3by the cathode pre-sheath is greater than that by the anode pre-sheath,but the opposite is true for OH and O（1S）.However,within the sheath,almost all reactions do not ***,by changing the parameters of nanosecond pulse power supply voltage,it is found that the electron number density,electron current density,and applied peak voltages are not the direct reasons for the structural changes of the sheath and ***,the discharge interval has little effect on the sheath structure and gas mixture *** research results of this paper not only help to understand the kinetic promotion of non-equilibrium excitation in the process of oxidative pyrolysis but also help to explore th

关键词： Nanosecond pulsed discharge Ammonia Oxidative pyrolysis Fluid model Global model

Dispatch Model for Integrated Heat and Power Systems Considering Internal Composition of CHP Plants

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CSEE Journal of Power and Energy Systems 2021年第2期7卷 396-407页

作者： tuo Jiang Yong Min Guiping Zhou Lei chen Qun chen Fei Xu Department of Electrical Engineering Tsinghua UniversityBeijing 100084China State Grid Liaoning Electric Power Supply Co.Ltd. Shenyang 110000China Department of Engineering Mechanics Tsinghua UniversityBeijing 100084China

An integrated heat and power system(IHPS)is a promising approach for alleviating wind curtailment *** an IHPS,the combined heat and power(CHP)plant is the key component,which supplies both heat and electric loads,and couples the thermal system and power ***,existing research commonly ignores or simplifies the internal composition of CHP plants,which could lead to some unavoidable *** paper focuses on the internal composition of CHP plants,and models the physical processes in different components and flexible resources in the CHP ***,a joint dispatch problem of an IHPS with the above CHP plant models is formulated,and an iterative algorithm is developed to handle the nonlinearity in this *** studies are performed based on a real CHP plant in Northern China,and the results indicate that the synergistic effect of different energy resources in the CHP plant is realized by the joint dispatch model,which promotes wind power accommodation and reduces fossil fuel consumption.

关键词： Combined heat and power(CHP)plant CHP unit economic dispatch Integrated heat and power system wind power integration

In-situ doping-induced lattice strain of NiCoP/S nanocrystals for robust wide pH hydrogen evolution electrocatalysis and supercapacitor

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Journal of Energy Chemistry 2022年第7期31卷 27-35,I0002页

作者： Yan Lin Xiaomeng chen Yongxiao tuo Yuan Pan Jun Zhang College of Energy Storage Technology Shandong University of Science and TechnologyQingdao 266590ShandongChina School of Material Science and Engineering China University of Petroleum(East China)Qingdao 266580ShandongChina State Key Laboratory of Heavy Oil Processing China University of Petroleum(East China)Qingdao 266580ShandongChina

Developing high-efficiency multifunctional nanomaterials is promising for wide p H hydrogen evolution reaction(HER) and energy storage but still challenging. Herein, a novel in-situ doping-induced lattice strain strategy of NiCoP/S nanocrystals(NCs) was proposed through using seed crystal conversion approach with NiCo_(2)S_(4) spinel as precursor. The small amount of S atoms in NiCoP/S NCs perturbed the local electronic structure, leading to the atomic position shift of the nearest neighbor in the protocell and the nanoscale lattice strain, which optimized the H* adsorption free energy and activated H_(2)O molecules, resulting the dramatically elevated HER performance within a wide p H range. Especially, the NiCoP/S NCs displayed better HER electrocatalytic activity than comical 20% Pt/C at high current density in 1 M KOH and natural seawater: it only needed 266 m V vs. reversible hydrogen electrode(RHE) and660 m V vs. RHE to arrive the current density of 350 m A cm^(-2) in 1 M KOH and natural seawater, indicating the application prospect for industrial high current. Besides, NiCoP/S NCs also displayed excellent supercapacitor performance: it showed high specific capacity of 2229.9 F g^(-1) at 1 A g^(-1) and energy density of87.49 Wh kg^(-1), when assembled into an all-solid-state flexible device, exceeding performance of most transition metal phosphides. This work provides new insights into the regulation in electronic structure and lattice strain for electrocatalytic and energy storage applications.

关键词： Heteroatom doping Lattice strain Hydrogen evolution electrocatalysis Sea water electrocatalysis Supercapacitor

Tranylcypromine upregulates Sestrin 2 expression to ameliorate NLRP3-related noise-induced hearing loss

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Neural Regeneration Research 2025年第5期20卷 1483-1494页

作者： Xihang chen Zhifeng chen Menghua Li Weiwei Guo Shuolong Yuan Liangwei Xu Chang Lin Xi Shi Wei chen Shiming Yang Senior Department of Otolaryngology Head and Neck Surgery Chinese PLA General HospitalChinese PLA Medical SchoolBeijingChina State Key Laboratory of Hearing and Balance Science BeijingChina National Clinical Research Center for Otolaryngologic Diseases BeijingChina Key Laboratory of Hearing Science Ministry of EducationBeijingChina Beijing Key Laboratory of Hearing Impairment Prevention and Treatment BeijingChina Department of Otorhinolaryngology Head and Neck Surgery The First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian ProvinceChina Department of Otolaryngology Head and Neck Surgery The 940th Hospital of Joint Logistics Support Force of Chinese PLALanzhouGansu ProvinceChina Key Laboratory of Tropical Biological Resources of Ministry of Education School of Pharmaceutical SciencesHainan UniversityHaikouHainan ProvinceChina Academician Workstation of Hainan University School of Pharmaceutical SciencesYazhou BaySanyaHainan ProvinceChina

Noise-induced hearing loss is the primary non-genetic factor contributing to auditory ***,there are currently no effective pharmacological interventions for patients with noise-induced hearing ***,we present evidence suggesting that the lysine-specific demethylase 1 inhibitor–tranylcypromine is an otoprotective agent that could be used to treat noise-induced hearing loss,and elucidate its underlying regulatory *** established a mouse model of permanent threshold shift hearing loss by exposing the mice to white broadband noise at a sound pressure level of 120 d B for 4 *** found that tranylcypromine treatment led to the upregulation of Sestrin2(SESN2)and activation of the autophagy markers light chain 3B and lysosome-associated membrane glycoprotein 1 in the cochleae of mice treated with *** noise exposure group treated with tranylcypromine showed significantly lower average auditory brainstem response hearing thresholds at click,4,8,and 16 k Hz frequencies compared with the noise exposure group treated with *** findings indicate that tranylcypromine treatment resulted in increased SESN2,light chain 3B,and lysosome-associated membrane glycoprotein 1 expression after noise exposure,leading to a reduction in levels of 4-hydroxynonenal and cleaved caspase-3,thereby reducing noise-induced hair cell ***,immunoblot analysis demonstrated that treatment with tranylcypromine upregulated SESN2 expression via the autophagy *** treatment also reduced the production of NOD-like receptor family pyrin domaincontaining 3(NLRP3)*** conclusion,our results showed that tranylcypromine treatment ameliorated cochlear inflammation by promoting the expression of SESN2,which induced autophagy,thereby restricting NLRP3-related inflammasome signaling,alleviating cochlear hair cell loss,and protecting hearing *** findings suggest that inhibiting lysine-specific demethylase 1 is a

关键词： 4-hydroxynonenal apoptosis autophagy cleaved caspase-3 inflammation NOD-like receptor family pyrin domain-containing 3(NLRP3) noise-induced hearing loss oxidative stress Sestrin2 tranylcypromine

Numerical modeling of destress blasting for strata separation

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Journal of Rock Mechanics and Geotechnical Engineering 2023年第9期15卷 2238-2249页

作者： Petr Konicek tuo chen Hani S.Mitri Institute of Geonics Czech Academy of SciencesOstrava70800Czech Republic Department of Mining and Materials Engineering McGill UniversityMontrealH3A 0E8Canada

Destress blasting(DB)implemented along the perimeter of safety pillars is a special application of destressing in coal longwall *** goal is to separate relatively more deformed mined areas from safety pillars,such as shaft pillars or cross-cut pillars,to reduce the transfer of high stresses to the protective *** case study aims to numerically simulate selected destress blasts in the Czech part of the Upper Silesian Coal Basin and examine its impact on stress transfer to the safety pillar *** separate the area between the protective pillar and the longwall(LW),two fans of five 93-mm blast holes(length of 93e100 m)were drilled from the gate roads into the overburden *** set of blast holes was fired separately in two stages without time *** explosive charge(gelatin-type of explosive)of each stage is 3450 *** two DB stages were fired when the longwall face was approximately 158 m and 152 m away from the blast.A 3D mine-wide model is built and validated with in situ stress measured with *** and destressing in three 5-m thick coal seams are simulated in the *** modeling of DB is successfully conducted using a rock fragmentation factor a of 0.05 and a stress reduction/dissipation factor β of *** of transfer of additional stress from the mining area into the safety pillar is evaluated by comparison of yielding volume before and after *** is shown that yielding volume drops after DB by nearly 80%in the area of the destressing panel and near the safety shaft pillar.

关键词： Rockburst hazard Destress blasting(DB) Strata separation Safety pillar Numerical modeling Fragmentation factor Stress dissipation factor Longwall mining

Interannual variability of boreal summer intraseasonal oscillation over the northwestern Pacific influenced by the Pacific Meridional Mode

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Atmospheric and Oceanic Science Letters 2025年第1期18卷 6-11页

作者： Haoyu Zhou Pang-Chi Hsu Lin chen yitian Qian Key Laboratory of Meteorological Disaster Ministry of Education/Joint International Research Laboratory of Climate and Environmental Change/Collaborative Innovation Center on Forecast and Evaluation of Meteorological DisastersNanjing University of Information Science and TechnologyNanjingChina

During the boreal summer,intraseasonal oscillations exhibit significant interannual variations in intensity over two key regions:the central-western equatorial Pacific(5°S-5°N,150°E-150°W)and the subtropical Northwestern Pacific(10°-20°N,130°E-175°W).The former is well-documented and considered to be influenced by the ENSO,while the latter has received comparatively less attention and is likely influenced by the Pacific Meridional Mode(PMM),as suggested by partial correlation analysis *** elucidate the physical processes responsible for the enhanced(weakened)intraseasonal convection over the subtropical northwestern Pacific during warm(cold)PMM years,the authors employed a moisture budget *** findings reveal that during warm PMM years,there is an increase in summer-mean moisture over the subtropical northwestern *** increase interacts with intensified vertical motion perturbations in the region,leading to greater vertical moisture advection in the lower troposphere and consequently resulting in convective *** a process is pivotal in amplifying intraseasonal convection *** observational findings were further verified by model experiments forced by PMM-like sea surface temperature patterns.

关键词： Boreal summer intraseasonal oscillation Interannual variability Pacific Meridional Mode Moisture budget analysis

Targeting cholesterol trafficking to mitigate axonal degeneration in hereditary spastic paraplegia

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Neural Regeneration Research 2025年第5期20卷 1397-1398页

作者： Zhenyu chen Xue-Jun Li Department of Biomedical Sciences University of Illinois College of Medicine RockfordRockfordILUSA Department of Bioengineering University of Illinois at ChicagoChicagoILUSA

Axonal degeneration underlies many debilitating diseases including hereditary spastic paraplegia(HSP),a genetically and clinically diverse group of disorders characterized by spasticity and weakness of the lower *** is one significant cause of chronic neurodisability due to the lack of effective treatments and a wide range of onset ages from early childhood to 70 years.

关键词： degeneration diseases hereditary